Kazuo Umetsu

Summary

Affiliation: Yamagata University
Country: Japan

Publications

  1. ncbi request reprint Recent progress in mitochondrial DNA analysis
    Kazuo Umetsu
    Department of Experimental and Forensic Pathology, Faculty of Medicine, Yamagata University, Yamagata 990 9585, Japan
    Leg Med (Tokyo) 7:259-62. 2005
  2. ncbi request reprint Multiplex amplified product-length polymorphism analysis for rapid detection of human mitochondrial DNA variations
    K Umetsu
    Department of Forensic Medicine, Yamagata University School of Medicine, Japan
    Electrophoresis 22:3533-8. 2001
  3. ncbi request reprint Complete mitochondrial DNA sequence of a tadpole shrimp (Triops cancriformis) and analysis of museum samples
    Kazuo Umetsu
    Department of Forensic Medicine, Yamagata University School of Medicine, Yamagata, Japan
    Electrophoresis 23:4080-4. 2002
  4. ncbi request reprint Multiplex amplified product-length polymorphism analysis of 36 mitochondrial single-nucleotide polymorphisms for haplogrouping of East Asian populations
    Kazuo Umetsu
    Department of Experimental and Forensic Pathology, Faculty of Medicine, Yamagata University, Yamagata, Japan
    Electrophoresis 26:91-8. 2005
  5. doi request reprint A hypervariable STR polymorphism in the CFI gene: southern origin of East Asian-specific group H alleles
    Isao Yuasa
    Division of Legal Medicine, Faculty of Medicine, Tottori University, Yonago 683 8503, Japan
    Leg Med (Tokyo) 15:239-43. 2013
  6. doi request reprint A hypervariable STR polymorphism in the complement factor I (CFI) gene: Asian-specific alleles
    Isao Yuasa
    Division of Legal Medicine, Faculty of Medicine, Tottori University, Yonago, 683 8503, Japan
    Int J Legal Med 125:121-5. 2011
  7. ncbi request reprint A Japanese-specific allele in the GALNT11 gene
    Isao Yuasa
    Division of Legal Medicine, Faculty of Medicine, Tottori University, Yonago, Japan
    Leg Med (Tokyo) 12:208-11. 2010
  8. doi request reprint Polyalanine expansion of PHOX2B in congenital central hypoventilation syndrome: rs17884724:A>C is associated with 7-alanine expansion
    Hiroko Arai
    Department of Pediatrics, Yamagata University School of Medicine, Yamagata, Japan
    J Hum Genet 55:4-7. 2010
  9. doi request reprint HERC1 polymorphisms: population-specific variations in haplotype composition
    Isao Yuasa
    Division of Legal Medicine, Faculty of Medicine, Tottori University, Yonago, Japan
    Cell Biochem Funct 27:402-5. 2009
  10. doi request reprint A hypervariable STR polymorphism in the CFI gene: mutation rate and no linkage disequilibrium with FGA
    Isao Yuasa
    Division of Legal Medicine, Faculty of Medicine, Tottori University, Yonago 683 8503, Japan
    Leg Med (Tokyo) 15:161-3. 2013

Collaborators

Detail Information

Publications38

  1. ncbi request reprint Recent progress in mitochondrial DNA analysis
    Kazuo Umetsu
    Department of Experimental and Forensic Pathology, Faculty of Medicine, Yamagata University, Yamagata 990 9585, Japan
    Leg Med (Tokyo) 7:259-62. 2005
    ..Haplogroups are fairly continent- and/or region-specific; therefore, we can infer the ethnic background of that mtDNA. In addition, errors in hypervariable region sequences can be detected by means of haplogroup motif analysis...
  2. ncbi request reprint Multiplex amplified product-length polymorphism analysis for rapid detection of human mitochondrial DNA variations
    K Umetsu
    Department of Forensic Medicine, Yamagata University School of Medicine, Japan
    Electrophoresis 22:3533-8. 2001
    ..The multiplex APLP method is suitable for large-scale screening studies of mtDNA variability because it is both rapid and economical...
  3. ncbi request reprint Complete mitochondrial DNA sequence of a tadpole shrimp (Triops cancriformis) and analysis of museum samples
    Kazuo Umetsu
    Department of Forensic Medicine, Yamagata University School of Medicine, Yamagata, Japan
    Electrophoresis 23:4080-4. 2002
    ..The sequence divergence was in the range of 0-1.51%, suggesting that those samples were closely related to each other...
  4. ncbi request reprint Multiplex amplified product-length polymorphism analysis of 36 mitochondrial single-nucleotide polymorphisms for haplogrouping of East Asian populations
    Kazuo Umetsu
    Department of Experimental and Forensic Pathology, Faculty of Medicine, Yamagata University, Yamagata, Japan
    Electrophoresis 26:91-8. 2005
    ..This is the first panel of mtSNPs in the coding region to be used for haplogrouping of East Asian populations...
  5. doi request reprint A hypervariable STR polymorphism in the CFI gene: southern origin of East Asian-specific group H alleles
    Isao Yuasa
    Division of Legal Medicine, Faculty of Medicine, Tottori University, Yonago 683 8503, Japan
    Leg Med (Tokyo) 15:239-43. 2013
    ..927 in Thais to 0.874 in Oroqens, higher than those of an STR in the fibrinogen alpha chain (FGA) gene on chromosome 4q. Thus, iSTR is a useful marker for anthropological and forensic genetics. ..
  6. doi request reprint A hypervariable STR polymorphism in the complement factor I (CFI) gene: Asian-specific alleles
    Isao Yuasa
    Division of Legal Medicine, Faculty of Medicine, Tottori University, Yonago, 683 8503, Japan
    Int J Legal Med 125:121-5. 2011
    ..1217A in exon 11 (CFI*Ah). The heterozygosity values ranged from 0.89 in German to 0.93 in Thai populations. This STR would be a useful supplementary marker for forensic individualization...
  7. ncbi request reprint A Japanese-specific allele in the GALNT11 gene
    Isao Yuasa
    Division of Legal Medicine, Faculty of Medicine, Tottori University, Yonago, Japan
    Leg Med (Tokyo) 12:208-11. 2010
    ..153 in Okinawa, 0.076 in the main island of Japan, and 0.017-0.004 in Korea. These five East Asian- and Japanese-specific SNPs would be useful markers for forensic individualization, in particular, as ancestry-informative markers...
  8. doi request reprint Polyalanine expansion of PHOX2B in congenital central hypoventilation syndrome: rs17884724:A>C is associated with 7-alanine expansion
    Hiroko Arai
    Department of Pediatrics, Yamagata University School of Medicine, Yamagata, Japan
    J Hum Genet 55:4-7. 2010
    ..De novo polyalanine expansion mutations are mainly derived from unequal sister chromatid exchange during spermatogenesis because of replication and/or repair systems that are specific for spermatogenesis...
  9. doi request reprint HERC1 polymorphisms: population-specific variations in haplotype composition
    Isao Yuasa
    Division of Legal Medicine, Faculty of Medicine, Tottori University, Yonago, Japan
    Cell Biochem Funct 27:402-5. 2009
    ..Information on haplotypes would be useful for testing the function of polymorphisms in the HERC1 gene. This is the first study to investigate the distribution of HERC1 polymorphisms in various populations...
  10. doi request reprint A hypervariable STR polymorphism in the CFI gene: mutation rate and no linkage disequilibrium with FGA
    Isao Yuasa
    Division of Legal Medicine, Faculty of Medicine, Tottori University, Yonago 683 8503, Japan
    Leg Med (Tokyo) 15:161-3. 2013
    ..The expected heterozygosity and the mutation rate of CFI were estimated to be 0.917 and 0.002, respectively. No LD was observed between CFI and FGA. CFI is a useful supplementary marker for forensic science...
  11. doi request reprint Distribution of OCA2∗481Thr and OCA2∗615Arg, associated with hypopigmentation, in several additional populations
    Isao Yuasa
    Division of Legal Medicine, Faculty of Medicine, Tottori University, Yonago 683 8503, Japan
    Leg Med (Tokyo) 13:215-7. 2011
    ..673). This study confirmed that these two East Asian-specific alleles are characteristic of northern and central-southern East Asian populations...
  12. ncbi request reprint Allele frequencies of a SNP and a 27-bp deletion that are the determinant of earwax type in the ABCC11 gene
    Takashi Kitano
    Department of Experimental and Forensic Pathology, Yamagata University School of Medicine, 2 2 2 Iidanishi, Yamagata 990 9585, Japan
    Leg Med (Tokyo) 10:113-4. 2008
    ..The SNP will be useful as one of ancestry information markers, because it showed marked difference in frequencies between Asian and European populations...
  13. ncbi request reprint The structure and diversity of alpha1-acid glycoprotein/orosomucoid gene in Africans
    Isao Yuasa
    Division of Legal Medicine, Faculty of Medicine, Tottori University, 86 Nishimachi, Yonago 683 8503, Japan
    Biochem Genet 44:145-60. 2006
    ..Several single-nucleotide polymorphisms were observed in the ORM2 gene. The rearrangement of the ORM gene is likely to occur often in Africans...
  14. ncbi request reprint [Haplotype analysis of single nucleotide polymorphisms of mitochondrial DNA]
    Gotaro Watanabe
    Forensic Science Laboratory, Yamagata Prefectural Police Headquarters, Yamagata, Japan
    Nihon Hoigaku Zasshi 58:141-8. 2004
    ..These results show the usefulness of mtDNA haplotype analysis by the presented method for personal identification...
  15. ncbi request reprint Molecular basis of ESD*5 and ESD*7 and haplotype analysis with new polymorphisms in introns
    Isao Yuasa
    Division of Legal Medicine, Faculty of Medicine, Tottori University, Yonago 683 8503, Japan
    Hum Biol 76:479-88. 2004
    ..A marked difference was observed in the distribution of haplotype frequencies between Germans and Japanese...
  16. ncbi request reprint Two universal primer sets for species identification among vertebrates
    Takashi Kitano
    Department of Experimental and Forensic Pathology, Faculty of Medicine, Yamagata University, Yamagata, Japan
    Int J Legal Med 121:423-7. 2007
    ..A case example of the identification of a piece of buried bone of unknown species is presented, and the species was identified as a pig by this method...
  17. doi request reprint Cardiac ion channel gene mutations in sudden infant death syndrome
    Tesshu Otagiri
    Department of Pediatrics, Yamagata University School of Medicine, Yamagata 990 9585, Japan
    Pediatr Res 64:482-7. 2008
    ..Our data suggests that nearly 10% of SIDS victims in Japan have mutations of the cardiac ion channel genes similar to in other countries...
  18. ncbi request reprint Tempo and mode of evolution of the Rh blood group genes before and after gene duplication
    Takashi Kitano
    Department of Experimental and Forensic Pathology, Yamagata University School of Medicine, 2 2 2 Iidanishi, Yamagata, 990 9585, Japan
    Immunogenetics 59:427-31. 2007
    ..Although the evolutionary rate of exon 7 was accelerated after the gene duplication, our results suggest that exon 7 had the potential for change even before the gene duplication...
  19. ncbi request reprint Origin and evolution of gene for prolactin-induced protein
    Takashi Kitano
    Department of Experimental and Forensic Pathology, Yamagata University School of Medicine, 2 2 2 Iidanishi, Yamagata 990 9585, Japan
    Gene 383:64-70. 2006
    ..The results indicate that the PIP gene arose by partial gene duplication from a member of the alpha-2-macroglobulin gene family after the divergence between amphibians and other tetrapods...
  20. ncbi request reprint Allele frequency distribution of short tandem repeat D13S1493 in two populations
    Isao Yuasa
    Division of Legal Medicine, Faculty of Medicine, Tottori University, Yonago 683 8503, Japan
    J Forensic Sci 51:445. 2006
  21. ncbi request reprint OCA2 481Thr, a hypofunctional allele in pigmentation, is characteristic of northeastern Asian populations
    Isao Yuasa
    Division of Legal Medicine, Faculty of Medicine, Tottori University, Yonago 683 8503, Japan
    J Hum Genet 52:690-3. 2007
    ..24) in Mongolia and showed a north-south downward geographical gradient. These findings suggest that OCA2 481Thr arose in a region of low ultraviolet radiation and thereafter spread to neighboring populations...
  22. doi request reprint Haplotype analysis of seven Y-STRs (eleven loci) in two Japanese populations
    Isao Yuasa
    Division of Legal Medicine, Faculty of Medicine, Tottori University, 86 Nishimachi, 683 8503 Yonago, Japan
    Leg Med (Tokyo) 10:316-8. 2008
    ..259 at DYS450 in southern Japan. A total of 272 different haplotypes were observed, of which 240 were found in single individuals. The overall haplotype diversity and discrimination capacity was 0.9982 and 0.8395, respectively...
  23. ncbi request reprint De novo polyalanine expansion of PHOX2B in congenital central hypoventilation syndrome: unequal sister chromatid exchange during paternal gametogenesis
    Hiroko Arai
    Department of Pediatrics, Yamagata University School of Medicine, 2 2 2 Iida nishi, Yamagata 990 9585, Japan
    J Hum Genet 52:921-5. 2007
    ....
  24. doi request reprint A founder haplotype of APOE-Sendai mutation associated with lipoprotein glomerulopathy
    Kentaro Toyota
    Department of Pediatrics, Yamagata University School of Medicine, Yamagata, Japan
    J Hum Genet 58:254-8. 2013
    ..These results suggest that the counterpart APOE allele is not likely associated with the onset of LPG. Further study is required to clarify the pathogenesis of LPG...
  25. ncbi request reprint Neonatal hyperbilirubinemia and the bilirubin uridine diphosphate-glucuronosyltransferase gene: the common -3263T > G mutation of phenobarbital response enhancer module is not associated with the neonatal hyperbilirubinemia in Japanese
    Masayo Kanai
    Department of Pediatrics, Yamagata University School of Medicine, Yamagata 990 9585, Japan
    Pediatr Int 47:137-41. 2005
    ..The gene frequency of the -3263T > G mutation was determined and the relation with neonatal hyperbilirubinemia in Japanese was studied...
  26. ncbi request reprint Evolution of the cystatin B gene: implications for the origin of its variable dodecamer tandem repeat in humans
    Motoki Osawa
    Department of Forensic Medicine, Yamagata University School of Medicine, Yamagata 990 9585, Japan
    Genomics 81:78-84. 2003
    ..Repetitive polymorphism was unlikely in hominoids, and the array originated with the dodecamer itself in the course of primate evolution. The variability conceivably developed after the separation to humans...
  27. ncbi request reprint Small heat shock protein 27 mutation in a Japanese patient with distal hereditary motor neuropathy
    Kazuki Kijima
    Department of Pediatrics, Yamagata University School of Medicine, 2 2 2 Iida nishi, Yamagata 990 9585, Japan
    J Hum Genet 50:473-6. 2005
    ..Mutation in HSP27 may impair the formation of the stable neurofilament network that is indispensable for the maintenance of peripheral nerves...
  28. ncbi request reprint Association of alpha2-HS glycoprotein (AHSG, fetuin-A) polymorphism with AHSG and phosphate serum levels
    Motoki Osawa
    Department of Experimental and Forensic Pathology, Faculty of Medicine, Yamagata University, 2 2 2 Iida nishi, Yamagata, 990 9585, Japan
    Hum Genet 116:146-51. 2005
    ..The AHSG polymorphism is attributable to the hereditary variation of AHSG and phosphate serum levels, which may affect skeletal development and chronic disorders such as vascular calcification...
  29. ncbi request reprint Molecular aspects of biochemical markers
    Isao Yuasa
    Division of Legal Medicine, Faculty of Medicine, Tottori University, 86 Nishimachi, Yonago 683 8503, Japan
    Leg Med (Tokyo) 7:251-4. 2005
    ..Deficient and null alleles arise from point mutation and deletion. The value of genomic information on allelic diversity is also discussed...
  30. ncbi request reprint Sudden infant death syndrome is not associated with the mutation of PHOX2B gene, a major causative gene of congenital central hypoventilation syndrome
    Kazuki Kijima
    Departments of Pediatrics, Yamagata University School of Medicine, Yamagata 990 9585, Japan
    Tohoku J Exp Med 203:65-8. 2004
    ..We therefore analyzed the PHOX2B gene in 23 cases of SIDS and did not find any mutations, except for three polymorphic nucleotidic substitutions. The mutation of PHOX2B is thus not likely associated with SIDS...
  31. ncbi request reprint Molecular analysis of the human esterase D gene ESD(*)Q0(yonago) responsible for incompatibility in a Japanese paternity case
    Isao Yuasa
    Department of Legal Medicine, Faculty of Medicine, Tottori University, 86 Nishimachi, Yonago 683 8503, Japan
    Forensic Sci Int 126:248-51. 2002
    ..It was characterized by having TGA for the stop codon instead of TCA for serine at codon 63. Thus, the sharing of a rare null gene, ESD(*)Q0(yonago), increased the probability of paternity...
  32. ncbi request reprint Mitochondrial GTPase mitofusin 2 mutation in Charcot-Marie-Tooth neuropathy type 2A
    Kazuki Kijima
    Department of Pediatrics, Yamagata University School of Medicine, 2 2 2 Iida nishi, Yamagata 990 9585, Japan
    Hum Genet 116:23-7. 2005
    ..Formation of a mitochondrial network would be required to maintain the functional peripheral nerve axon...
  33. pmc Mitochondrial genome variation in eastern Asia and the peopling of Japan
    Masashi Tanaka
    Department of Gene Therapy, Gifu International Institute of Biotechnology, Kakamigahara, Gifu 504 0838, Japan
    Genome Res 14:1832-50. 2004
    ..All the theories that have been proposed up to now to explain the peopling of Japan seem insufficient to accommodate fully this complex picture...
  34. ncbi request reprint MATP polymorphisms in Germans and Japanese: the L374F mutation as a population marker for Caucasoids
    Isao Yuasa
    Division of Legal Medicine Faculty of Medicine, Tottori University, 683 8503 Yonago, Japan
    Int J Legal Med 118:364-6. 2004
    ..This extreme difference in allele frequency suggests that the L374F mutation is valuable as a population and ancestry informative marker for Caucasoids...
  35. ncbi request reprint Utility of haplogroup determination for forensic mtDNA analysis in the Japanese population
    Masaru Asari
    Department of Legal Medicine, Asahikawa Medical College, 2 1 Midorigaokahigashi, Asahikawa 078 8510, Japan
    Leg Med (Tokyo) 9:237-40. 2007
    ..Our mtDNA profiling method can provide reliable data in a time and cost-saving way due to the rapid and economical nature of APLP analysis...
  36. ncbi request reprint Polymorphism, heteroplasmy, mitochondrial fusion and diabetes
    Aya Sato
    High Technology Research Center, Kagawa Nutrition University, Chiyoda Sakado, Saitama 350 0288, Japan
    Biosci Rep 23:313-37. 2003
    ..Under the influence of polymorphisms of mtDNA and nDNA, the vicious circle of reactive oxygen species and mutations in cell can be alleviated by mitochondrial fusion...
  37. ncbi request reprint Novel paternity testing by distinguishing parental alleles at a VNTR locus in the differentially methylated region upstream of the human H19 gene
    Emiko Naito
    Division of Legal Medicine, Niigata University Graduate School of Medical and Dental Science, 1 757 Asahimachidori, Niigata 951 8510, Japan
    J Forensic Sci 48:1275-9. 2003
    ..671 and 0.705, respectively. Feasibility of this typing is demonstrated for six families, and the usefulness is shown by application to paternity testing...
  38. ncbi request reprint Single nucleotide polymorphisms of thrifty genes for energy metabolism: evolutionary origins and prospects for intervention to prevent obesity-related diseases
    Yasuo Kagawa
    Department of Medical Chemistry, Kagawa Nutrition University, 3 9 21 Chiyoda Sakado, Saitama 350 0288, Japan
    Biochem Biophys Res Commun 295:207-22. 2002
    ..These differences in SNPs may have been caused by natural selection depending on the types of agriculture practiced in different regions. Interventions to counteract the adverse effects of "thrifty" SNPs have been partially effective...